Canonical Allele Identifier: CA314638

Gene: FOXG1

Linked Data

• ClinVar Variation Id: 205501
• ClinVar RCV Id: RCV000187477 ; RCV001857611
• dbSNP Id: rs796052475
• gnomAD v4: 14-28767597-G-GCCGCCA
• MyVariant Identifiers: chr14:g.29236812_29236817dupGCCACC (hg19) ; chr14:g.29236803_29236804insCCGCCA (hg19) ; chr14:g.28767606_28767611dupGCCACC (hg38) ; chr14:g.28767597_28767598insCCGCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28767606_28767611dup , CM000676.2:g.28767606_28767611dup	GRCh38
NC_000014.8:g.29236812_29236817dup , CM000676.1:g.29236812_29236817dup	GRCh37
NC_000014.7:g.28306563_28306568dup	NCBI36
NG_009367.1:g.5526_5531dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706482.1:c.327_332dup	ENSP00000516406.1:p.Pro111_Pro112insProPro
ENST00000313071.7:c.327_332dup MANE Select	ENSP00000339004.3:p.Pro111_Pro112insProPro
ENST00000313071.6:c.327_332dup	ENSP00000339004.3:p.Pro111_Pro112insProPro
NM_005249.4:c.327_332dup	NP_005240.3:p.Pro111_Pro112insProPro
NM_005249.5:c.327_332dup MANE Select	NP_005240.3:p.Pro111_Pro112insProPro